Dystrophy & Membrane Repair
Group Leader: Associate Professor Sandra Cooper
We study the muscular dystrophy protein dysferlin and the emergency cell survival mechanism of membrane repair. Microinjection of eggs for in vitro fertilisation is a good example of how most cells can rapidly repair a large hole in their surface membrane. This process is particularly important in skeletal muscle that regularly suffers membrane injury with stretch.
Calcium is the main trigger for membrane repair. When the muscle membrane is damaged, calcium gains entry to the inside of a cell, and rapidly activates the fusion of vesicles that form a ‘patch’ to repair the membrane tear. Dysferlin has many calcium-binding domains, and is proposed to play a key role in the calcium-triggered vesicle fusion of membrane repair.
Using dysferlin as the key, we want to unlock the molecular steps required to survive a membrane injury. We have developed novel assays to test therapies that improve recovery from membrane injuring events, with the goal of learning how to modulate membrane resealing pathways for therapeutic treatment of neuromuscular disease, and recovery from cardiac injury or stroke.
Current projects include:
- Dyferlinopathy: A genetic disease sheds light on membrane repair for muscle and cardiac injury
- The underlying basis of dysferlin-related muscular dystrophy
- Muscle cell dysfunction in limb girdle muscular dystrophy